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Volledige samenvatting Genetica en Neurowetenschappen - eerste jaar orthopedagogie
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Vak inleiding genetica en neurowetenschappen gegeven in eerste jaar, tweede semester orthopedagogie aan HoGent.
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SamenvattingINLEIDING GENETICA EN
NEUROWETENSCHAPPEN
Orthopedagogie - HoGent Campus Schoonmeersen
Schooljaar: 2020-2021 - MT1 – SEM2
Docent: K. Percuy, K. Temmerman
Margot De Weirdt
,INLEIDING GENETICA EN NEUROWETENSCHAPPEN
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,INLEIDING GENETICA EN NEUROWETENSCHAPPEN
Inhoudsopgave
1. De erfelijke code en de wijze waarop ze wordt doorgegeven ....................................... - 9 -
1.1. Situering in de cel .................................................................................................... - 9 -
1.1.1. Het celmembraan ............................................................................................. - 9 -
1.1.2. Het cytoplasma................................................................................................. - 9 -
1.1.3. De celkern of nucleus ..................................................................................... - 10 -
1.2. Uitzicht van het erfelijk materiaal ......................................................................... - 10 -
1.2.1. De enkelvoudige chromatinedraadjes ........................................................... - 10 -
1.2.2. De omvorming tot chromosomen .................................................................. - 10 -
1.2.3. De chromosomenkaart of karyogram ............................................................ - 11 -
1.2.4. Chromosomenformule of karyotype.............................................................. - 11 -
1.3. DNA: een werkplan ................................................................................................ - 11 -
1.4. Hoe de code wordt doorgegeven: celdelingen ..................................................... - 12 -
1.4.1. Soorten celdelingen........................................................................................ - 12 -
2. Klassieke overervingspatronen .................................................................................... - 13 -
2.1. Enkele basisbegrippen ........................................................................................... - 13 -
2.2. Omzetting van genotype naar fenotype ............................................................... - 13 -
2.3. Genetische overdracht van ouders naar kinderen ................................................ - 13 -
2.3.1. Stamboomonderzoek ..................................................................................... - 14 -
2.3.2. Het rooster van Punnett................................................................................. - 14 -
3. Enkele monogene ziektebeelden ................................................................................. - 16 -
3.1. Autosomaal recessieve aandoeningen .................................................................. - 16 -
3.1.1. Mucoviscidose of cystische fibrose (CF) of muco .......................................... - 16 -
3.1.2. Fenylketonurie (PKU) ..................................................................................... - 16 -
3.1.3. Albinisme ........................................................................................................ - 16 -
3.2. Autosomaal dominante aandoeningen ................................................................. - 17 -
3.2.1. Ziekte van Huntington .................................................................................... - 17 -
3.2.2. Neurofibromatose (NF) .................................................................................. - 17 -
3.2.3. Achondroplasie............................................................................................... - 17 -
3.3. X-gebonden recessieve aandoeningen .................................................................. - 18 -
3.3.1. Musculaire dystrofie of Ziekte van Duchenne ............................................... - 18 -
3.3.2. Fragiel-X-syndroom ........................................................................................ - 18 -
3.4. X-gebonden dominante aandoeningen ................................................................. - 18 -
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, INLEIDING GENETICA EN NEUROWETENSCHAPPEN
3.4.1. Het Rett-syndroom ......................................................................................... - 18 -
4. Niet-Mendeliaanse (of multifactoriële) overervingspatronen .................................... - 19 -
4.1. Neurale buisdefecten ............................................................................................ - 19 -
4.1.1. Anencefalie ..................................................................................................... - 19 -
4.1.2. Open rug of Spina bifida aperta ..................................................................... - 19 -
4.1.3. Spina bifida occulta ........................................................................................ - 19 -
4.2. Andere lichaamsmisvormingen ............................................................................. - 19 -
4.2.1. Gespleten lip met of zonder gespleten verhemelte ...................................... - 19 -
4.2.2. Klompvoet ...................................................................................................... - 19 -
4.2.3. Ontwrichte heup ............................................................................................ - 19 -
5. Numerieke en structurele chromosoomdefecten ....................................................... - 20 -
5.1. Enkele algemene vaststellingen ................................................................................ - 20 -
5.1.1. Incidentie van chromosomale afwijkingen ........................................................ - 20 -
5.1.2. Mogelijke oorzaken ............................................................................................ - 20 -
5.1.3. Gradaties in de gevolgen .................................................................................... - 20 -
5.2. Numerieke autosomale afwijkingen ......................................................................... - 20 -
5.2.1. Trisomie 21 of he syndroom van Down ............................................................. - 20 -
5.2.2. Trisomie- 18: syndroom van Edwards ................................................................ - 21 -
5.2.3. Trisomie- 13: syndroom van Patau .................................................................... - 21 -
5.3. Structurele autosomale afwijkingen ......................................................................... - 22 -
5.3.1. Cri-du-chat-syndroom (5p-)................................................................................ - 22 -
5.3.2. Wolf-Hirschhorm-syndroom (4p-) ...................................................................... - 22 -
5.4. Geslacht chromosomale numerieke afwijkingen ...................................................... - 22 -
5.4.1. Het syndroom van Turner (45, X0) – vrouwelijk ................................................ - 22 -
5.4.2. Het triple- X of XXX- syndroom (47, XXX) – vrouwelijk ...................................... - 22 -
5.4.3. Klinefeltersyndroom (47, XXY) – mannelijk ........................................................ - 23 -
5.4.4. XYY- syndroom of ‘le chromosome du crime’ (47, XYY) - mannelijk .................. - 23 -
6. Genetische advisering en prenataal onderzoek........................................................... - 24 -
6.1. Het genetisch advies .............................................................................................. - 24 -
6.1.1. Situering ......................................................................................................... - 24 -
6.1.2. Mogelijke herkomst van aangeboren afwijkingen ......................................... - 24 -
6.1.3. Genetic Counseling......................................................................................... - 24 -
6.2. Het prenataal onderzoek ....................................................................................... - 25 -
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